3-63615300-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001130003.2(SYNPR):c.677C>T(p.Ser226Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,613,678 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001130003.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SYNPR | NM_001130003.2 | c.677C>T | p.Ser226Leu | missense_variant | Exon 6 of 6 | ENST00000478300.6 | NP_001123475.1 | |
SYNPR | NM_144642.5 | c.617C>T | p.Ser206Leu | missense_variant | Exon 5 of 5 | NP_653243.1 | ||
SYNPR | XM_017005731.1 | c.725C>T | p.Ser242Leu | missense_variant | Exon 6 of 6 | XP_016861220.1 | ||
SYNPR | XM_017005732.3 | c.*4758C>T | downstream_gene_variant | XP_016861221.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152120Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000643 AC: 16AN: 248824Hom.: 0 AF XY: 0.0000741 AC XY: 10AN XY: 135010
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461558Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727054
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152120Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.677C>T (p.S226L) alteration is located in exon 6 (coding exon 6) of the SYNPR gene. This alteration results from a C to T substitution at nucleotide position 677, causing the serine (S) at amino acid position 226 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at